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Muscle Wasting Disease

Medical Terminology
by

Thelma Cramer

on 24 June 2013

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Transcript of Muscle Wasting Disease

Muscle Wasting Disease
Thelma Cramer
Robert Tubbs
Jennifer Garnick
Rasheedah Johnson
Distal Muscular Dsytrophy (DD)
Oculopharyngeal Muscular Dystrophy
Signs And Symptoms
Interesting Facts
What is Oculopharyngeal Muscular Dystrophy?
Cure?
What are the causes?
Treatment
Inherited Myopathies are caused by mutations in genes; the building blocks of our bodies. (mda.org)
TTN
Titin
Inherited Myopathy with early onset Respiratory Failure
Identified mutation changes a single protein building block in the Titin protein
Limb-girdle Muscular Dystrophy
The mutation deletes several amino acid and replaces them with other amino acids at the end of the Titin gene.
Salih Myopathy
Tibial Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD)
Pathology
What it is: Characterized by progressive muscle degeneration and weakness; absence of dystrophin

History: Guillaume Benjamin Amand Duchenne in 1860's

How it is passed: Inherited and passed by the mother

Symptoms
Symptom Onset: Usually between ages of 3-5; mainly affects boys

Muscle weakness first affecting hips, thighs, shoulders, pelvic area

Later on, muscles in arms, legs, trunk
Pathology

What it is: characterized by weakness of specific muscles that begin in childhood or adulthood; mutation of MATR3 gene

History: First described in 1902

How it is passed: Inherited in an autosomal dominant or recessive pattern
Symptoms
Muscles weakness in the ankle usually is the first symptom

Starts on one side, but both sides eventually are affected

Affects the muscles in the lower arms and legs, hands and feet
Causes
A mutation in any of the 8 genes that affect proteins that are necessary to the function of the muscles

MATR3 gene; provides instruction for making protein called Matrin 3
Cure/Treatment
Diagnosis
Genetic Testing

Creatine Kinase (CK) Test

Muscle Biopsy
Treatment
Braces/Wheelchairs

Diet and Exercise

Medications
Life Expectancy/Research
Survival into early 30's, possibly into 40's or 50's

Research involves replacing or changing the gene, human trials
Muscle disease that affects both the skeletal and cardiac muscles
Primarily affects the muscles of the front of the lower leg
References
http://www.mda.org
http://ghr.nlm.nih.gov
Interesting Facts
There are no cures for DD

Gene replacement therapy

Occupational/ Physical therapy
http://www.sharecare.com
Disease is most common in Sweden, rare in other parts of the world

Affects fewer muscles than other muscular dystrophy diseases; less severe

Disease by itself and describes a group of six specific muscle diseases affecting distal muscles
Full transcript